Longitudinal report of child with de novo 16p11.2 triplication

16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with...

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Autores principales: Wallace, Arianne S., Hudac, Caitlin M., Steinman, Kyle J., Peterson, Jessica L., DesChamps, Trent D., Duyzend, Michael H., Nuttle, Xander, Eichler, Evan E., Bernier, Raphael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771938/
https://www.ncbi.nlm.nih.gov/pubmed/29375855
http://dx.doi.org/10.1002/ccr3.1236
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author Wallace, Arianne S.
Hudac, Caitlin M.
Steinman, Kyle J.
Peterson, Jessica L.
DesChamps, Trent D.
Duyzend, Michael H.
Nuttle, Xander
Eichler, Evan E.
Bernier, Raphael A.
author_facet Wallace, Arianne S.
Hudac, Caitlin M.
Steinman, Kyle J.
Peterson, Jessica L.
DesChamps, Trent D.
Duyzend, Michael H.
Nuttle, Xander
Eichler, Evan E.
Bernier, Raphael A.
author_sort Wallace, Arianne S.
collection PubMed
description 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above‐average physical growth.
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spelling pubmed-57719382018-01-26 Longitudinal report of child with de novo 16p11.2 triplication Wallace, Arianne S. Hudac, Caitlin M. Steinman, Kyle J. Peterson, Jessica L. DesChamps, Trent D. Duyzend, Michael H. Nuttle, Xander Eichler, Evan E. Bernier, Raphael A. Clin Case Rep Case Reports 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above‐average physical growth. John Wiley and Sons Inc. 2017-12-06 /pmc/articles/PMC5771938/ /pubmed/29375855 http://dx.doi.org/10.1002/ccr3.1236 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Wallace, Arianne S.
Hudac, Caitlin M.
Steinman, Kyle J.
Peterson, Jessica L.
DesChamps, Trent D.
Duyzend, Michael H.
Nuttle, Xander
Eichler, Evan E.
Bernier, Raphael A.
Longitudinal report of child with de novo 16p11.2 triplication
title Longitudinal report of child with de novo 16p11.2 triplication
title_full Longitudinal report of child with de novo 16p11.2 triplication
title_fullStr Longitudinal report of child with de novo 16p11.2 triplication
title_full_unstemmed Longitudinal report of child with de novo 16p11.2 triplication
title_short Longitudinal report of child with de novo 16p11.2 triplication
title_sort longitudinal report of child with de novo 16p11.2 triplication
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771938/
https://www.ncbi.nlm.nih.gov/pubmed/29375855
http://dx.doi.org/10.1002/ccr3.1236
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